research Acne Syndromes and Mosaicism
Understanding how acne develops in different diseases could lead to new treatments.
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750-780 / 1000+ results research The role of the androgen receptor gene CAG repeat polymorphism and X-chromosome inactivation pattern in postmenopausal female pattern hair loss
research Risk of Abnormal Pregnancy Completing Chemotherapy for Gestational Trophoblastic Tumor
After chemotherapy for a gestational trophoblastic tumor, normal pregnancy rates are possible, but there's a slightly higher risk of the tumor reoccurring in future pregnancies.
research Structural and epistatic regulatory variants cause hallmark white spotting in cattle
Two gene variants cause white spots in cattle.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research Targeting the Hippo/YAP /TAZ signalling pathway: Novel opportunities for therapeutic interventions into skin cancers
Blocking YAP/TAZ could be a new way to treat skin cancer.
research Pigmentary mosaicism: An update
Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.
research Approaching fertility in congenital adrenal hyperplasia: exploring P30L mutation-induced 21-hydroxylase deficiency with a presentation between non-classical and simple virilizing phenotypes. A case report
A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
research Evolution and genetic architecture of sex-limited polymorphism in cuckoos
Female cuckoo color differences are linked to their unique genes and help avoid male harassment.
research More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
research Mdm2-p53 Signaling in Tissue Homeostasis and the DNA Damage Response: A Dissertation
Mdm2 is crucial for controlling p53 to maintain healthy cells and prevent tumors.
research Injury suppresses Ras cell competitive advantage through enhanced wild-type cell proliferation
Injury boosts normal skin cell growth, reducing cancer cell advantage.
research Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases
Early-onset hair loss is linked to Parkinson's disease and decreased fertility.
research 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research 304 Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation
Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
research Androgenic alopecia associated with the HSD3B1 (1245a>c) in overweight women with polycystic ovarian syndrome
The HSD3B1 variant increases hair loss risk in overweight women with PCOS.
research Clinical and endocrine characteristics of the main polycystic ovary syndrome phenotypes
Different types of polycystic ovary syndrome (PCOS) have varying severity, with Type I being the most severe and common.
research Effects of the prenatal and postnatal nurturing environment on the phenotype and gut microbiota of mice with polycystic ovary syndrome induced by prenatal androgen exposure: a cross-fostering study
Prenatal and postnatal environments both affect PCOS development and gut microbiota in mice.
research Defective trophoblast function in mice with a targeted mutation of Ets2
Ets2 gene is crucial for placental development in mice.
research One Transgene: Two Outcomes
Modified β-catenin causes different effects in hair and skin cells, leading to cysts or tumors.
research The association between rs2476601 polymorphism in PTPN22 gene and risk of alopecia areata
The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.
research Morphological study in a mechanism of congenital pili torti formation: Björnstad syndrome
Björnstad syndrome causes twisted hair from birth.
research The Near-Naked Hairless (Hr) Mutation Disrupts Hair Formation but Is Not Due to a Mutation in the Hairless Coding Region
The near-naked hairless mutation causes hair loss but is not due to a mutation in the hairless gene itself.
research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
research 17-Hydroxyprogesterone Responses to Gonadotropin-Releasing Hormone Disclose Distinct Phenotypes of Functional Ovarian Hyperandrogenism and Polycystic Ovary Syndrome
The research found that polycystic ovary syndrome (PCOS) has two distinct types, with one having more severe hormone and insulin issues.
research Generating mouse models of degenerative diseases using Cre/lox-mediated in vivo mosaic cell ablation
The study created a mouse model to mimic degenerative diseases for testing tissue repair and new therapies.
research Co-operation between follicular ornithine decarboxylase and v-Ha-ras induces spontaneous papillomas and malignant conversion in transgenic skin
High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
research Postzygotic KRAS G12C mutation, associated with various malignancies, is also underling epidermal nevus syndrome
A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
research A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix
A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.